Transmission electron microscopy study of suspected primary ciliary dyskinesia patients.

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive condition often presenting with chronic respiratory infections in early life. Transmission electron microscopy (TEM) is used to detect ciliary ultrastructural defects. In this study, we aimed to assess ciliary ultrastructural defects using quantitative methods on TEM to identify its diagnostic role in confirming PCD. Nasal samples of 67 patients, including 37 females and 30 males (20.3 ± 10.7 years old), with suspected PCD symptoms were examined by TEM. The most common presentations were bronchiectasis: 26 (38.8%), chronic sinusitis: 23 (34.3%), and recurrent lower respiratory infections: 21 (31.3%). Secondary ciliary dyskinesia, including compound cilia (41.4%) and extra-tubules (44.3%), were the most prevalent TEM finding. Twelve patients (17.9%) had hallmark diagnostic criteria for PCD (class 1) consisting of 11 (16.4%) outer and inner dynein arm (ODA and IDA) defects and only one concurrent IDA defect and microtubular disorganization. Also, 11 patients (16.4%) had probable criteria for PCD (class 2), 26 (38.8%) had other defects, and 18 (26.9%) had normal ciliary ultrastructure. Among our suspected PCD patients, the most common ultrastructural ciliary defects were extra-tubules and compound cilia. However, the most prevalent hallmark diagnostic defect confirming PCD was simultaneous defects of IDA and ODA.

Inflammatory Markers in the Serum and Bronchoalveolar Lavage in Children with Non-Cystic Fibrosis Bronchiectasis.

Background: It is known that inflammatory responses occur in the airways of patients with non-cystic fibrosis bronchiectasis during respiratory exacerbations but the role of these cytokines is not clear in this condition. Herein we evaluated the levels of interleukin-1ß (IL-1ß), IL-8 and tumor necrosis factor α (TNF-α) in the serum and bronchoalveolar lavage among children with non-cystic fibrosis bronchiectasis. Materials and Methods: This cross-sectional study was performed on all children with non-cystic fibrosis bronchiectasis who were admitted with respiratory exacerbation in the pediatric pulmonology ward of Masih Daneshvari Hospital, Tehran-Iran. All patients underwent fiberoptic bronchoscopy and spirometry before and after the bronchoscopy. IL-1ß, IL-8, and TNF-α levels were measured in the serum and bronchoalveolar lavage. Results: Patients included 10 (59%) female and 7 (41%) male subjects with mean age of 13.8 years (range, 5-18). Mean values for forced vital capacity (FVC) and forced expiratory volume in one second (FEV1) were below the normal range before and after bronchoscopy. Mean value for FVC (from 55% to 63%, P= 0.01) and FEV1 (from 60% to 64%, P= 0.26) increased after bronchoscopy compared to before that. IL-1ß and IL-8 levels were increased and TNF-α level was decreased in the serum and bronchoalveolar lavage but no significant correlation was found between spirometry and these cytokines levels. Conclusion: Changes in inflammatory cytokines levels in serum and bronchoalveolar lavage during respiratory exacerbation in patients with noncystic fibrosis bronchiectasis have no significant correlation with spirometry and cannot be used in clinical practice.

Bernard-Soulier Syndrome (BSS) & tuberculosis: A case report.

BACKGROUND: Bernard-Soulier Syndrome (BSS) is a rare congenital bleeding disorder characterized by thrombocytopenia. BSS causes bruising, epistaxis, gingival bleeding hemorrhage, post-partum bleeding, gastrointestinal bleeding and post-traumatic hemorrhage, but there is no report of hemoptysis in BSS. CASE REPORT: A 14-year-old girl was referred to this center due to massive hemoptysis. Her chest X-ray revealed complete collapse of the left lung. Rigid bronchoscopy was performed and the intrabronchial clots were removed. Smear and culture of direct sputum was positive for Mycobacterium tuberculosis. She received anti-tuberculosis treatment. During treatment, she developed massive vaginal bleeding, because of drug interaction between rifampin and low dose contraceptive (LD), which she had been taking for control of massive menstrual bleeding. Her vaginal bleeding was controlled by platelet infusion and recombinant factor 7 infusion. After two months of anti-TB treatment, the sputum smear and culture examination became negative. One year after treatment, the pulmonary tuberculosis was completely cured and no hemoptysis occurred. CONCLUSION: When hemoptysis occurs in patients with BSS, other differential diagnoses should also be considered.